Joan H. Marks, MS

2012-2013 BCRF Project:

The New York Breast Cancer Study
Co-Investigator: Mary-Claire King, PhD, New York Breast Cancer Study at the University of Washington, Seattle, WA

The goal of the New York Breast Cancer Study is to identify all genes responsible for inherited predisposition to breast cancer in the Ashkenazi Jewish population and by extension among women of all ancestries. To discover these genes, Dr. King's team uses genomic sequencing to evaluate DNA from women who have developed breast cancer and from their unaffected relatives. In 2011-2012, they refined their genomics approach, named BROCA, for targeted genomic capture and sequencing for all genes for inherited predisposition to breast cancer. This approach is a "one-stop shop" that enables the simultaneous complete evaluation of 24 breast cancer genes from a small DNA sample from a participant. Researchers led by Dr. King are using BROCA to sequence DNA from participants in the New York Breast Cancer Study. The goal is to identify heretofore unknown mutations, in both known and previously unknown genes, that may explain the breast cancers of participants with none of the more common mutations in BRCA1 or BRCA2.

Mid-year Progress: With BCRF support, this team developed the novel approach to screening called BROCA, which is based on targeted genomic capture and ultra-high-throughput next-generation sequencing. It is more complete, faster, and far less expensive than current commercial approaches. BROCA is now in clinical use at the University of Washington hospital and elsewhere and is the method with which this group is screening DNA from participants in the New York Breast Cancer Study.

In this phase of the New York Breast Cancer Study, the investigators are addressing two questions. First, how often do mutations in BRCA1 and BRCA2 other than the three common Ashkenazi Jewish mutations occur among women in this population with breast cancer? They had previously described the frequencies and risks due to the common AJ mutations in BRCA1 and BRCA2 in the original publications of the NYBCS. And second, how often do mutations in breast-cancer-predisposing genes other than BRCA1 and BRCA2 occur among Ashkenazi Jewish women with breast cancer? Their goal is to identify all mutations, in both known and previously unknown genes, that may explain the breast cancers of participants with none of the more common mutations in BRCA1 or BRCA2.

Bio:
Joan H. Marks is Co-Director of The New York Breast Cancer Study, a research project examining the role of breast cancer genes in increasing the incidence of breast cancer in Ashkenazi Jewish women.

From 1972 to 1998 Joan Marks directed two unique graduate programs in health care at Sarah Lawrence College. The Human Genetics program, which she developed into the largest program in the country to educate genetic counselors, pioneered the field of genetic counseling and served as a model for 26 similar programs at universities in the U.S. and several others in Canada, Argentina, Australia, Puerto Rico, Taiwan, England and Israel. In 1979, Marks founded the Graduate Program in Health Advocacy at Sarah Lawrence, the first graduate degree program to train advocates who work within the complex health care delivery system in the U.S. to ensure the rights of patients and health care consumers.

Joan Marks has served on a number of advisory boards in medicine such as the American Board of Internal Medicine, the American Academy of Physicians and Patients, and the Women's Health Initiative of the National Institutes of Health. She has also chaired the Ethics Committee of the National Neurofibromatosis Association and is a member of their Clinical Care Advisory Board. She is the author of The Genetic Connection: How To Protect Your Family Against Genetic Disease and editor of Advocacy in Health Care: The Silent Constituency.

In 2003 Joan Marks became the first woman and first non-M.D. to receive the Excellence in Human Genetics Education Award, presented by the American Society of Human Genetics. In April, 2006, in recognition of her "enduring contributions to Sarah Lawrence College, and of her legacy as pioneer, educator, mentor, advocate and leader in genetic counseling," the College formally named its human genetics program the Joan H. Marks Graduate Program in Human Genetics.